C3151295[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1430577	NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu)	CNNM2 (G16E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1375331	NM_017649.5(CNNM2):c.118A>G (p.Ile40Val)	CNNM2 (I40V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1487188	NM_017649.5(CNNM2):c.237G>A (p.Leu79=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298637	NM_017649.5(CNNM2):c.342G>T (p.Thr114=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 746924	NM_017649.5(CNNM2):c.360C>T (p.Phe120=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign/Likely benign
Select item 298639	NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)	CNNM2 (A202T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +3 more	GBenign/Likely benign
Select item 1299852	NM_017649.5(CNNM2):c.804G>T (p.Leu268=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 740699	NM_017649.5(CNNM2):c.903C>T (p.Tyr301=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1627843	NM_017649.5(CNNM2):c.1765+11T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1098410	NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)	CNNM2 (R602*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 6 +2 more	GLikely pathogenic
Select item 298646	NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val)	CNNM2 (A671V)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +2 more	GUncertain significance
Select item 732511	NM_017649.5(CNNM2):c.2073+8G>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GLikely benign
Select item 298647	NM_017649.5(CNNM2):c.2073+14T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1672716	NM_017649.5(CNNM2):c.2233+17C>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 392723	NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu)	CNNM2 (P773L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 746700	NM_017649.5(CNNM2):c.2322A>G (p.Thr774=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GLikely benign
Select item 916391	NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser)	CNNM2 (N757S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 722958	NM_017649.5(CNNM2):c.2565C>T (p.Asn855=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign